Senior-Boichis syndrome

Also known as: Boichis disease, Nephronophthisis-hepatic fibrosis syndrome

Definition

Orphanet

Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.

Go To Source: Orphanet

Classification

Symptoms

Medical Term Other Names Description
Renal insufficiency Renal failure in adulthood, Renal failure A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hepatitis Liver inflammation Inflammation of the liver.
Hepatic fibrosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Tapetoretinal degeneration Retinotapetal degeneration
Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.

Other Classifiers and IDs